Canonical Allele Identifier: CA401790857

Gene: NPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23534444A>C , CM000680.2:g.23534444A>C	GRCh38
NC_000018.9:g.21114408A>C , CM000680.1:g.21114408A>C	GRCh37
NC_000018.8:g.19368406A>C	NCBI36
NG_012795.1:g.57174T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000271.5:c.3591+2T>G MANE Select	NP_000262.2:n.3591+2T>G
ENST00000269228.10:c.3591+2T>G MANE Select	ENSP00000269228.4:n.3591+2T>G
NM_000271.4:c.3591+2T>G	NP_000262.2:n.3591+2T>G
ENST00000269228.9:c.3591+2T>G	ENSP00000269228.4:n.3591+2T>G
ENST00000586150.5:c.346+2T>G
ENST00000587163.1:n.115+2T>G
ENST00000588867.1:n.348T>G
ENST00000591051.1:c.2669+2T>G
ENST00000591107.6:c.268+2T>G
XM_005258277.1:c.3642+2T>G	XP_005258334.1:n.3642+2T>G
XM_005258278.3:c.3642+2T>G	XP_005258335.1:n.3642+2T>G
XM_005258278.5:c.3642+2T>G	XP_005258335.1:n.3642+2T>G
XM_005258279.1:c.3591+2T>G	XP_005258336.1:n.3591+2T>G
XM_005258279.2:c.3591+2T>G	XP_005258336.1:n.3591+2T>G
XM_006722479.2:c.3642+2T>G	XP_006722542.1:n.3642+2T>G
XM_006722479.3:c.3642+2T>G	XP_006722542.1:n.3642+2T>G
XM_011526015.1:c.3177+2T>G	XP_011524317.1:n.3177+2T>G
XM_017025784.1:c.3642+2T>G	XP_016881273.1:n.3642+2T>G
XM_017025785.1:c.3642+2T>G	XP_016881274.1:n.3642+2T>G
XM_017025786.1:c.3591+2T>G	XP_016881275.1:n.3591+2T>G
XM_017025787.1:c.3591+2T>G	XP_016881276.1:n.3591+2T>G